A SHORT AUTOBIOGRAPHICAL PRESENTATION.
Originally from Cotronei (prov. of Crotone), Domenica Taruscio graduated in Medicine and Surgery and specialised in Anatomy and Histopathology at the University of Bologna. As a young researcher, she joined Italy’s largest public research institution, the Istituto Superiore di Sanità (ISS), in 1986. In 1988, she won a scholarship at Yale, remaining there until 1991 and dedicating herself to studies on the human genome. Back in Italy, she devoted herself to rare diseases, ranging from scientific research to public health aspects, always paying close attention to patient participation, aiming at improving their well-being. In 2000, she won and coordinated the NEPHIRD project (Network of Public Institutions dedicated to Rare Diseases), the first of several projects funded by the European Commission. From 2000 to 2009 he represented Italy on the Committee for Orphan Medicinal Products of the European Medicines Agency (EMA). In 2008 – and since then sshe has directed it – she set up the National Centre for Rare Diseases (CNMR) of the ISS. She has many European and international collaborations: member of Task Forces and Committees of the European Commission, he is President of the Advisory Body of the European Commission’s Programme for Guidelines for European Reference Networks for Rare Diseases; she is President, for the second time, of the Scientific Society ‘International Collaboration on Rare Diseases and Orphan Drugs’ (ICORD, http://icord. es/); she is co-founder and co-ordinator since 2004, together with the US National Institute of Health, of the Undiagnosed Diseases Network International (UDNI, https://www.udninternational.org/), a Global Network of physicians, researchers, computer scientists, and patients from over 40 countries on 6 continents with the aim of identifying a diagnosis for people without one and increasing research on rare diseases.
WHAT ARE RARE DISEASES AND WHAT DOES THE NATIONAL CENTRE FOR RARE DISEASES THAT YOU DIRECT DEAL WITH?
Rare diseases constitute a heterogeneous group of diseases (more than 8,000) and affect about one person in every 2,000 inhabitants in Europe (involving more than 300 million people worldwide). The cause is genetic in 80% of cases and multifactorial in the remaining 20%. Many are present from birth, others may manifest in adulthood. Some unfortunately remain nameless. Almost all are chronic and disabling, these are complex conditions that require multidisciplinary and multi-specialist management, and only for a small number of them is the treatment decisive, for many, the treatment remains supportive, based on symptomatic therapies and physical, psychological and re-education rehabilitation programmes. It is precisely the focus on these pathologies that is our mission: the CNMR coordinates research activities ranging from prevention to surveillance and monitoring of these diseases. These activities rest on the two pillars of the National Rare Diseases Network, which links all the accredited clinical centres identified by the Regions, and on the National Rare Diseases Registry, set up in 2001 in the CNMR, to collect valuable data: on patients and pathologies, thus supporting national and regional research and planning. The CNMR itself has always been committed to the primary prevention of congenital malformations, in particular neural tube disorders (e.g. spina bifida) by promoting correct lifestyles and diet and supplementation with vitamin B9 (folic acid) in the periconceptional period, i.e. from before conception until the third month of pregnancy. But we are also engaged in important secondary prevention work, with the promotion and monitoring of Expanded Neonatal Screening (ENS) across the country. In fact, Law No. 167 of 19 August 2016 made SNE compulsory in Italy, giving parents the opportunity to know whether their child might develop one of the 40 or so hereditary metabolic diseases included in the screening programme, and, for newborns with a possible positive diagnosis, to enjoy the benefits of early treatment and care. The same law established the Neonatal Screening Coordination Centre at the ISS. Another important neonatal secondary prevention front in which the Centre has been active for years, together with many experts from outside the ISS, is neonatal hearing and visual screening, and the CNMR recently published national recommendations (https://www.iss.it/documents/20126/6682486/22-17+web.pdf/50a56732-ffb5-c2a3-4be2-b96d79e62073?t=1658127184537).
THE SINGLE TEXT ON RARE DISEASES: A NOT INSIGNIFICANT ACHIEVEMENT…
Yes, we finally have a Law (Law no. 175 of 2021), which came into force in December last year, and which puts into system the great work done since 2001 with the establishment of the National Network of Rare Diseases and the National Rare Diseases Registry, and then from 2008 with the birth of the CNMR, but also the great work of the Patients’ Associations, the Ministry of Health, the Regions, and the Parliamentary Intergroup for Rare Diseases. The Consolidated Text intends to guarantee uniformity of access to treatment and diagnostic pathways; availability of drugs as well as dietetic, galenic, medical devices, and rehabilitation products; school, social, and work inclusion (with the institution, an absolute novelty, of a Solidarity Fund to finance school support, insertion, and permanence of persons with rare diseases in the different contexts of life and work). However, the law is not enough. We are waiting for the implementing decrees, those regulatory acts that must bring it into the daily lives of patients according to a well-defined timetable. In this new legislative framework, the CNMR maintains a leading role: it sees its research, advisory and documentation prerogatives strengthened; it is within the National Committee for Rare Diseases, set up by this very law at the Ministry of Health; it is the final recipient of the flow of data and information coming from the Regions through the regional and interregional co-ordination centres, in order to produce new knowledge on rare diseases, to monitor the activity and use of resources, and to assess the overall quality of patient care, and to implement epidemiological monitoring, also for the purpose of orienting and supporting national planning on rare diseases and control and verification actions. I would also like to mention that in December 2021 another important milestone was reached with the adoption by the UN of the first Resolution recognising the rights of people with rare diseases. The Resolution – a form of ‘soft law’ but binding on the secretariat as well as on the UN budget and programmes – is an important tool to elevate rare diseases within the UN system. Key points include: the inclusion and participation of people with rare diseases and their families in society; improving health and social outcomes with appropriate care and support; promoting national strategies and actions; integrating rare diseases into UN agendas, programmes and priorities; and publishing regular reports by the UN Secretariat to monitor progress in implementing the Resolution.
YOU HAVE ALWAYS COMBINED RARE DISEASES WITH NARRATIVE MEDICINE. WHY?
Scientific research, international and European strategies, and actions at national level in public health are absolutely essential, but, at a certain point, I saw the need to open up other avenues. Listening to people’s experiences, during numerous meetings with patients and their associations, full of mutual trust and empathy, I felt the need to give them a ‘voice’. And so it has been about fifteen years since the idea of the artistic, literary, and musical competition ‘Il Volo di Pegaso’ (The Flight of Pegasus) was born, the only one of its kind in Italy, whose name is a metaphor in honour of the very vital impetus and ability to free themselves from the weight of the daily worries of these people to live and rejoice, overcoming obstacles and isolation. In 2012, the President of the Republic, Giorgio Napolitano, awarded me the Medal of Representation for the Competition, now in its 14th edition. With regard more specifically to Narrative Medicine, I believe it is a useful tool to undertake a ‘global approach’ to public health capable of responding to the needs of people with pathologies, particularly rare ones. In fact, in rare patients the experiences of loneliness, isolation and bewilderment are very frequent as well as the sense of helplessness and frustration in health professionals. For this reason, the CNMR has always favoured this tool, among others, through the activities of the Health Humanities laboratory where art and humanistic culture on the one hand, and social and health sciences on the other, meet to promote the active participation of patients and the improvement of the care system. Indeed, it should be emphasised that Narrative Medicine is not only addressed to patients, but also to all those who, in different capacities, are part of the care team’.
WHAT ARE THE MOST IMPORTANT PROJECTS CARRIED OUT BY THE ISS IN RELATION TO NARRATIVE MEDICINE? WOULD YOU LIKE TO TELL US ABOUT THE CONSENSUS GUIDELINES?
“There are many activities carried out over time by the CNMR: we started, in 2000, the four-year research project I coordinated, funded by the European Commission and called NEPHIRD (NEtwork of Public Health Institutions on Rare Diseases). In fact, one of the objectives of NEPHIRD, which involved fifteen countries, was to assess the quality of life of people with rare diseases. In this project context, our aim was to promote a culture of participation in those affected by rare diseases. NEPHIRD, through its activities, including numerous focus groups organised on specific topics, taught us that listening to disease stories contributes to understanding people in their own specific context, to identifying not only health questions but also new proposals for care models matured during the disease and life experience. The NEPPHIRD project has been followed by numerous national and international research, training, and information activities (such as the Story Telling on Record (S.T.o.Re.) project, an international partnership aimed at studying the integration of Narrative Medicine in medical records, financed by the European Commission under the Lifelong Learning Programme 2013-15), and art and science courses with secondary school students as part of the former Alternanza Scuola Lavoro (Work Study Programme), and the “Controvento” (Against the Wind) communication project, the video story “Con gli occhi tuoi. A story of love and friendship’. In addition to the collection and study of stories, the numerous conferences on the subject, with guests of the calibre of Rita Charon, Brian Hurwitz and Gianni Bonadonna, are certainly worth mentioning. Subsequently, the experiences have multiplied and in 2015 we organised the Consensus Conference for the Guidelines for the use of Narrative Medicine in the clinical-assistance field, for rare and chronic-degenerative diseases. The commitment continues with the LIMeNar project (Use and Application Contexts of the Guidelines for the Use of Narrative Medicine in Clinical Care and Association Settings). Moreover, with regard to the COVID-19 pandemic, the CNMR has coordinated, together with the University of Milan-Bicocca and the Biella ASL, the project ‘PandemicaMente. Le narrazioni come risorsa in tempo di pandemia” (Pandemic narratives as a resource in times of pandemic), and collaborated on the survey “Malattie rare al tempo del COVID-19: dall’emergenza alla ripartenza. Come i malati rari e le famiglie vivono la pandemia” promoted by the University of Catania and the project for the collection and study of narratives “R-Esistere. Respiro, ricordo, racconto” promoted by the Italian Society of Narrative Medicine.
WHAT IS THE ‘STATE OF HEALTH’ OF RESEARCH IN ITALY WITH RESPECT TO RARE DISEASES?
The eighth edition of the Monitor Report on the conditions of rare diseases in Italy, edited by the Italian Federation of Rare Diseases – UNIAMO, shows some signs of growth: the weight of authorised clinical trials on rare diseases on the total number of clinical trials goes from 25.5% in 2017 to 31.8% in 2021 (reaching a peak of 32.1% in 2019). In 2021, clinical trials on rare diseases in Phase I and II approached the threshold of 50% of the total. However, the presence of Italian research groups in rare disease projects included in the Orphanet platform (which provides quality cross-referenced data on rare diseases and orphan drugs) is decreasing: 7.6% in 2021 compared to 19.9% in 2016. Monitorare also informs us that there are 223 reference centres for rare diseases identified by Regions/PPAA, 83 of which are part of at least one European Reference Network – ERN (growing because they were 66 until the end of 2021).
THE CITIZEN SCIENCE PROJECT LAUNCHED BY THE NATIONAL CENTRE FOR RARE DISEASES ENVISAGES THE PARTICIPATION OF CITIZENS, SCHOOLS, SOCIAL SERVICES AND NOT ONLY THE HEALTH COMPONENT: WHAT DOES YOUR INSTITUTION, THE MINISTRY OF HEALTH AND YOU, SO ATTENTIVE AND SENSITIVE TO PEOPLE WITH RARE DISEASES AND THEIR FAMILIES, EXPECT FROM THIS PROJECT?
I expect a lot from what, in our intentions, is meant to be a push for active participation in the co-construction of the common good. A project that enhances the creativity and ingenuity of people, even if they lack specific technical-scientific skills, but are certainly animated by the desire to improve the lives of others. All the more so if, as in the case of people with a rare disease, they experience difficulties on their own skin or on that of their loved ones that lead them to act in the first person in an attempt to resolve them: it is therefore a question of contributing to developing knowledge on a basis of direct experience, which, after a process of evaluation, can lead to effective results. A project that has the disruptive force of democracy: there is nothing more democratic in fact than Participatory Science (Citizen science) which has its foundation in the active participation of citizens in the process of scientific knowledge according to solid and shared criteria. A project that also has the ambition of changing the silo mentality in science, which often limits researchers in a particular field, whereas Science in general and Participatory Science even more so requires continuous interaction and exchange with other fields. The field of action to contribute is vast: from mobility (i.e. tools or strategies to facilitate movement and physical activities, including sport) to communication (e.g. alternative use of IT aids, apps); from cognitive skills (e.g. alternative training methods, innovative solutions for learning) to managing emotions (stress, anxiety, aggression), including strategies for autonomy in daily life and social, school and work inclusion. The deadline for submitting ideas and projects is 30 October 2022.